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Presynaptic dysfunction in CASK-related neurodevelopmental disorders.
Becker M, Mastropasqua F, Reising JP, Maier S, Ho ML, Rabkina I, Li D, Neufeld J, Ballenberger L, Myers L, Moritz V, Kele M, Wincent J, Willfors C, Sitnikov R, Herlenius E, Anderlid BM, Falk A, Bölte S, Tammimies K. Becker M, et al. Among authors: ho ml. Transl Psychiatry. 2020 Sep 14;10(1):312. doi: 10.1038/s41398-020-00994-0. Transl Psychiatry. 2020. PMID: 32929080 Free PMC article.
Expanding the clinical phenotype of FGFR1 internal tandem duplication.
Kautto EA, Schieffer KM, McGrath S, Miller AR, Hernandez-Gonzalez ME, Choi S, Conces MR, Fernandez-Faith E, Ho ML, Lee K, Lillis AP, Pearson GD, Kaler SG, Wilson RK, Mardis ER, Magrini V, Leonard J, Cottrell CE. Kautto EA, et al. Among authors: ho ml. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006174. doi: 10.1101/mcs.a006174. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35149534 Free PMC article.
PTEN somatic mutations contribute to spectrum of cerebral overgrowth.
Koboldt DC, Miller KE, Miller AR, Bush JM, McGrath S, Leraas K, Crist E, Fair S, Schwind W, Wijeratne S, Fitch J, Leonard J, Shaikhouni A, Hester ME, Magrini V, Ho ML, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Bedrosian TA. Koboldt DC, et al. Among authors: ho ml. Brain. 2021 Nov 29;144(10):2971-2978. doi: 10.1093/brain/awab173. Brain. 2021. PMID: 34048549 Free PMC article.
KRIT1-positive hyperkeratotic cutaneous capillary venous malformation.
Matarneh B, Cottrell CE, Choi S, Pearson G, Fung B, Koo SC, Lillis AP, Ho ML, Fernandez Faith E. Matarneh B, et al. Among authors: ho ml. Pediatr Dermatol. 2022 Mar;39(2):250-254. doi: 10.1111/pde.14900. Epub 2021 Dec 28. Pediatr Dermatol. 2022. PMID: 34964173
363 results